Autosomal Recessive Congenital Cerebellar Ataxia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Autosomal Recessive Congenital Cerebellar Ataxia

MalaCards integrated aliases for Autosomal Recessive Congenital Cerebellar Ataxia:

Name: Autosomal Recessive Congenital Cerebellar Ataxia ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Orphanet ⁵⁸ ORPHA98095

Sources

Summaries for Autosomal Recessive Congenital Cerebellar Ataxia

MalaCards based summary : Autosomal Recessive Congenital Cerebellar Ataxia is related to galloway-mowat syndrome 1 and spinocerebellar ataxia autosomal recessive 5. An important gene associated with Autosomal Recessive Congenital Cerebellar Ataxia is ZNF592 (Zinc Finger Protein 592).

Sources

Related Diseases for Autosomal Recessive Congenital Cerebellar Ataxia

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia	Cerebellar Ataxia Type 42
Cerebellar Ataxia Type 47	Cerebellar Ataxia Type 41
Cerebellar Ataxia Type 43	Cerebellar Ataxia Type 48
Cerebellar Ataxia Type 9	Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect	Autosomal Recessive Congenital Cerebellar Ataxia
Autosomal Dominant Cerebellar Ataxia Type I	Autosomal Dominant Cerebellar Ataxia Type Iii
Autosomal Dominant Cerebellar Ataxia Type Iv

Diseases related to Autosomal Recessive Congenital Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	galloway-mowat syndrome 1	29.9	ZNF592 WDR73
2	spinocerebellar ataxia autosomal recessive 5	29.7	ZNF592 WDR73
3	spinocerebellar ataxia, autosomal recessive 13	11.5
4	spinocerebellar ataxia, autosomal recessive 18	11.5
5	ataxia and polyneuropathy, adult-onset	10.3
6	3-methylglutaconic aciduria, type iii	10.1
7	spinocerebellar ataxia, autosomal recessive 28	10.1
8	hereditary ataxia	10.1
9	galloway-mowat syndrome	10.1
10	tremor	10.1
11	autosomal recessive cerebellar ataxia	9.8	ZNF592 WDR73 GRM1

Graphical network of the top 20 diseases related to Autosomal Recessive Congenital Cerebellar Ataxia:

Sources

Symptoms & Phenotypes for Autosomal Recessive Congenital Cerebellar Ataxia

Sources

Drugs & Therapeutics for Autosomal Recessive Congenital Cerebellar Ataxia

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Congenital Cerebellar Ataxia

Sources

Genetic Tests for Autosomal Recessive Congenital Cerebellar Ataxia

Sources

Anatomical Context for Autosomal Recessive Congenital Cerebellar Ataxia

Sources

Publications for Autosomal Recessive Congenital Cerebellar Ataxia

Articles related to Autosomal Recessive Congenital Cerebellar Ataxia:

#	Title	Authors	PMID	Year
1	Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. ⁶¹	Walker MA...Blumkin L	31168944	2019
2	Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. ⁶¹	Guergueltcheva V...Kalaydjieva L	22901947	2012
3	CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. ⁶¹	Nicolas E...Delague V	20531441	2010
4	Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family. ⁶¹	Delague V...Claustres M	11506409	2001

Sources

Genes for Autosomal Recessive Congenital Cerebellar Ataxia

Genes related to Autosomal Recessive Congenital Cerebellar Ataxia (0 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ZNF592	Zinc Finger Protein 592	Protein Coding	8.03	GeneCards inferred via : Publications (show sections)
2	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	7.89	GeneCards inferred via : Publications (show sections)
3	AP3B2	Adaptor Related Protein Complex 3 Subunit Beta 2	Protein Coding	7.34	GeneCards inferred via : Publications (show sections)
4	BTBD1	BTB Domain Containing 1	Protein Coding	7.34	GeneCards inferred via : Publications (show sections)
5	EFL1	Elongation Factor Like GTPase 1	Protein Coding	7.34	GeneCards inferred via : Publications (show sections)
6	HMG20A	High Mobility Group 20A	Protein Coding	7.34	GeneCards inferred via : Publications (show sections)
7	HOMER2	Homer Scaffold Protein 2	Protein Coding	7.34	GeneCards inferred via : Publications (show sections)
8	MEX3B	Mex-3 RNA Binding Family Member B	Protein Coding	7.34	GeneCards inferred via : Publications (show sections)
9	SCAND2P	SCAN Domain Containing 2 Pseudogene	Pseudogene	7.34	GeneCards inferred via : Publications (show sections)
10	SH3GL3	SH3 Domain Containing GRB2 Like 3, Endophilin A3	Protein Coding	7.34	GeneCards inferred via : Publications (show sections)
11	THG1L	TRNA-Histidine Guanylyltransferase 1 Like	Protein Coding	7.34	GeneCards inferred via : Publications (show sections)
12	WDR73	WD Repeat Domain 73	Protein Coding	7.34	GeneCards inferred via : Publications (show sections)
13	ZFP64	ZFP64 Zinc Finger Protein	Protein Coding	7.34	GeneCards inferred via : Publications (show sections)
14	ZSCAN2	Zinc Finger And SCAN Domain Containing 2	Protein Coding	7.34	GeneCards inferred via : Publications (show sections)

Sources

Variations for Autosomal Recessive Congenital Cerebellar Ataxia

Sources

Expression for Autosomal Recessive Congenital Cerebellar Ataxia

Search GEO for disease gene expression data for Autosomal Recessive Congenital Cerebellar Ataxia.

Sources

Pathways for Autosomal Recessive Congenital Cerebellar Ataxia

Sources

GO Terms for Autosomal Recessive Congenital Cerebellar Ataxia

Biological processes related to Autosomal Recessive Congenital Cerebellar Ataxia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	G protein-coupled glutamate receptor signaling pathway	GO:0007216	8.62	HOMER2 GRM1

Molecular functions related to Autosomal Recessive Congenital Cerebellar Ataxia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:0042802	9.1	THG1L SH3GL3 HOMER2 HMG20A GRM1 BTBD1

Sources

Sources for Autosomal Recessive Congenital Cerebellar Ataxia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia